MAP2K2

mitogen-activated protein kinase kinase 2
OMIM: 601263
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardio-Facio-Cutaneous syndrome type 4, CFC syndrome, Cardiofaciocutaneous syndrome 4 615280, Cardiofaciocutaneous syndrome 4, syndromic HCM, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME 115150
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 4, 615280
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CFC syndrome, Cardiofaciocutaneous syndrome 4, Cardiofaciocutaneous syndrome, Cardio-Facio-Cutaneous syndrome type 4, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiofaciocutaneous syndrome 4, 615280, CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 4 615280